N28S (p.Asn28Ser) variant of JAK2 (Tyrosine-protein kinase JAK2)
N28S (p.Asn28Ser) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N28S (p.Asn28Ser) variant details
- p.Asn28Ser
- TOPMed rs1232333083
- gnomAD rs1232333083
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.17
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.97
- CADD 5.63
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available